ClinVar Miner

List of variants studied for Geleophysic dysplasia 2

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) rs387906622
NM_000138.5(FBN1):c.5182G>A (p.Ala1728Thr) rs387906624
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5243G>T (p.Cys1748Phe) rs1566902569
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658

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